E29K (p.Glu29Lys) variant of SLC26A4 (Pendrin)
E29K (p.Glu29Lys) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- NCI-TCGA Cosmic COSV9970
- cosmic curated COSV99707
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.70
- MetaSVM 0.44
- CADD 23.10
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4)
- UniProt: Likely pathogenic (in PDS)
- Population evidence available
- Structural context available